Canonical Allele Identifier: CA2653279825

Gene: SPATA2

Linked Data

• dbSNP Id: rs2146826897
• gnomAD v4: 20-49905551-ACTT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.49905556_49905558del , CM000682.2:g.49905556_49905558del	GRCh38
NC_000020.10:g.48522093_48522095del , CM000682.1:g.48522093_48522095del	GRCh37
NC_000020.9:g.47955500_47955502del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000289431.10:c.*65_*67del MANE Select	ENSP00000289431.5:n.*65_*67del
ENST00000289431.9:c.*65_*67del	ENSP00000289431.5:n.*65_*67del
ENST00000422556.1:c.*65_*67del	ENSP00000416799.1:n.*65_*67del
NM_001135773.1:c.*65_*67del	NP_001129245.1:n.*65_*67del
NM_006038.3:c.*65_*67del	NP_006029.1:n.*65_*67del
XM_006723894.1:c.*65_*67del	XP_006723957.1:n.*65_*67del
XM_011529116.1:c.*65_*67del	XP_011527418.1:n.*65_*67del
NM_006038.4:c.*65_*67del MANE Select	NP_006029.1:n.*65_*67del
NM_001135773.2:c.*65_*67del	NP_001129245.1:n.*65_*67del